Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01304:Cby2'

73349

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cby2

Ensembl Gene

ENSMUSG00000034913

Gene Name

chibby family member 2

Synonyms

Spert, Nurit, 1700086N05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

75820317-75830556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75830085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 36 (D36V)

Ref Sequence

ENSEMBL: ENSMUSP00000127439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035243] [ENSMUST00000164082] [ENSMUST00000165569] [ENSMUST00000169658]

AlphaFold

Q32MG2

Predicted Effect

probably benign
Transcript: ENSMUST00000035243

SMART Domains

Protein: ENSMUSP00000046259
Gene: ENSMUSG00000034913

Domain	Start	End	E-Value	Type
Pfam:Chibby	40	176	1e-13	PFAM
coiled coil region	200	228	N/A	INTRINSIC
coiled coil region	317	361	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164082
AA Change: D36V

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127439
Gene: ENSMUSG00000034913
AA Change: D36V

Domain	Start	End	E-Value	Type
Pfam:Chibby	77	200	4.9e-15	PFAM
coiled coil region	236	264	N/A	INTRINSIC
coiled coil region	353	397	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165569

SMART Domains

Protein: ENSMUSP00000131347
Gene: ENSMUSG00000034913

Domain	Start	End	E-Value	Type
Pfam:Chibby	1	135	2.1e-13	PFAM
coiled coil region	158	186	N/A	INTRINSIC
coiled coil region	275	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169658

SMART Domains

Protein: ENSMUSP00000129616
Gene: ENSMUSG00000034913

Domain	Start	End	E-Value	Type
Pfam:Chibby	49	185	2.4e-14	PFAM
coiled coil region	209	237	N/A	INTRINSIC
coiled coil region	326	370	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226623

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Aplf	A	C	6: 87,618,882 (GRCm39)	S421A	possibly damaging	Het
Arnt	T	G	3: 95,355,696 (GRCm39)	D13E	probably damaging	Het
Asap1	T	C	15: 64,184,298 (GRCm39)	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,230,884 (GRCm39)	N101S	probably damaging	Het
Chmp7	G	A	14: 69,956,062 (GRCm39)	P402L	probably benign	Het
Cir1	A	T	2: 73,118,068 (GRCm39)		probably null	Het
Clock	A	G	5: 76,414,202 (GRCm39)		probably null	Het
Col18a1	T	G	10: 76,911,975 (GRCm39)		probably benign	Het
Csf2ra	G	A	19: 61,215,271 (GRCm39)	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,085,236 (GRCm39)	L469H	probably damaging	Het
Dapk2	T	C	9: 66,139,139 (GRCm39)		probably benign	Het
F13a1	T	C	13: 37,172,852 (GRCm39)	D176G	probably benign	Het
Fbn2	T	C	18: 58,194,817 (GRCm39)	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,487,359 (GRCm39)	S265L	probably benign	Het
Hmcn1	C	T	1: 150,498,675 (GRCm39)	G4068D	probably damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ksr1	T	C	11: 78,918,468 (GRCm39)	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,639,049 (GRCm39)	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,453,588 (GRCm39)	T1194A	possibly damaging	Het
Med18	C	A	4: 132,186,930 (GRCm39)	A190S	probably damaging	Het
Mia2	G	A	12: 59,151,324 (GRCm39)	E105K	probably damaging	Het
Mnt	T	A	11: 74,733,011 (GRCm39)	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,188,678 (GRCm39)		probably null	Het
Or4b1b	G	A	2: 90,112,425 (GRCm39)	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,194,005 (GRCm39)	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,517,261 (GRCm39)	M662K	probably damaging	Het
Qser1	C	A	2: 104,617,976 (GRCm39)	Q945H	probably damaging	Het
Rad52	A	G	6: 119,895,594 (GRCm39)	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,216,147 (GRCm39)	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,649,365 (GRCm39)	A274S	probably benign	Het
Slco1a5	G	T	6: 142,187,876 (GRCm39)	Q488K	probably benign	Het
Snai2	T	C	16: 14,524,635 (GRCm39)	I47T	probably benign	Het
Snw1	T	C	12: 87,500,685 (GRCm39)	D358G	possibly damaging	Het
Speg	T	C	1: 75,404,841 (GRCm39)	F2878L	probably benign	Het
Spg11	T	C	2: 121,902,771 (GRCm39)	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,357,670 (GRCm39)	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,355,410 (GRCm39)	D227N	probably benign	Het
Txndc2	T	C	17: 65,945,448 (GRCm39)	E243G	possibly damaging	Het
Usp28	A	G	9: 48,938,119 (GRCm39)	D563G	probably damaging	Het
Vmn1r77	T	C	7: 11,775,962 (GRCm39)	V178A	probably damaging	Het
Zfp316	A	G	5: 143,240,181 (GRCm39)	F613L	probably benign	Het
Zfp870	A	T	17: 33,101,980 (GRCm39)	C450S	possibly damaging	Het

Other mutations in Cby2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01556:Cby2	APN	14	75,821,551 (GRCm39)	missense	probably damaging	1.00
IGL02653:Cby2	APN	14	75,820,597 (GRCm39)	missense	probably damaging	1.00
IGL03366:Cby2	APN	14	75,820,829 (GRCm39)	missense	probably benign	0.01
R0071:Cby2	UTSW	14	75,821,621 (GRCm39)	missense	probably benign	0.00
R1645:Cby2	UTSW	14	75,821,089 (GRCm39)	missense	probably benign	0.12
R1738:Cby2	UTSW	14	75,830,497 (GRCm39)	start codon destroyed	probably null	0.98
R1844:Cby2	UTSW	14	75,820,850 (GRCm39)	missense	probably benign	0.12
R4773:Cby2	UTSW	14	75,820,546 (GRCm39)	missense	probably damaging	1.00
R4857:Cby2	UTSW	14	75,830,478 (GRCm39)	missense	probably damaging	1.00
R5201:Cby2	UTSW	14	75,821,449 (GRCm39)	missense	probably damaging	1.00
R5274:Cby2	UTSW	14	75,820,666 (GRCm39)	missense	probably benign	0.00
R5880:Cby2	UTSW	14	75,821,243 (GRCm39)	missense	probably benign	0.02
R6915:Cby2	UTSW	14	75,830,098 (GRCm39)	missense	probably benign	0.37
R7399:Cby2	UTSW	14	75,830,077 (GRCm39)	missense	probably benign	0.00
R8054:Cby2	UTSW	14	75,821,339 (GRCm39)	missense	probably benign	0.00
R8062:Cby2	UTSW	14	75,830,046 (GRCm39)	missense	probably benign	0.13
R8172:Cby2	UTSW	14	75,829,241 (GRCm39)	splice site	probably null
R8998:Cby2	UTSW	14	75,820,654 (GRCm39)	missense	probably damaging	1.00
R9348:Cby2	UTSW	14	75,820,838 (GRCm39)	missense	probably damaging	0.99
R9550:Cby2	UTSW	14	75,820,603 (GRCm39)	missense	probably damaging	1.00
X0023:Cby2	UTSW	14	75,820,574 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07